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Study of Vanadis® NIPT for Non-invasive Prenatal Screening of Trisomies (T21, T18 and T13)

2018-06-21 02:46:21 | BioPortfolio

Summary

This study will assess the feasibility of Vanadis NIPT for screening of T21, T18 and T13. The results obtained from Vanadis NIPT will be compared with the study site's current prenatal screening methods. The primary objectives are: 1) To assess the feasibility of Vanadis NIPT for screening of T21, T18 and T13 in the maternal healthcare setting, 2) To assess preliminary performance of Vanadis NIPT for screening of T21 in comparison to site's routine screening methods i.e. combined and integrated tests, and 3) To evaluate preliminary cost effectiveness of Vanadis NIPT use in different models. The secondary objective is to assess the feasibility of Vanadis NIPT regarding determination of fetal sex.

Study Design

Conditions

Trisomy 21

Intervention

Vanadis NIPT system

Location

Centro Screening neonatale e prenatale del Piemonte e Valle d'Aosta AOU Città della Salute e della Scienza di Torino
Turin
Italy

Status

Enrolling by invitation

Source

PerkinElmer, Wallac Oy

Results (where available)

View Results

Links

Published on BioPortfolio: 2018-06-21T02:46:21-0400

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Non Invasive Prenatal Diagnosis of Trisomy 21 by Genetic Analysis of Circulating Fetal Cells

The objective of this project is to develop a non-invasive prenatal diagnostic test for trisomy 21 which is reliable, sensitive and cost-effective, and thus, offers an alternative to the c...

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PubMed Articles [8240 Associated PubMed Articles listed on BioPortfolio]

An efficient method for noninvasive prenatal diagnosis of fetal trisomy 13, trisomy 18, and trisomy 21.

Molecular size determination of circulating free fetal DNA in maternal plasma is an important detection method for noninvasive prenatal testing (NIPT). The fetal DNA molecule is the primary factor det...

A proof-of-concept study on the effects of low total cfDNA content and solutions to increase the NIPT trisomy 21 detection rate.

Non-invasive prenatal testing (NIPT) is routinely used in clinical practice for fetal trisomy screening, but low total cfDNA content and low fetal fraction (LFF) are two factors that affect the detect...

The role of ultrasound in the choice between chorionic villus sampling and amniocentesis for patients with a positive NIPT result for trisomy 18/13.

Maternal Tumor Disease as a Reason for Repeated Test Failure in Cell-Free DNA Screening.

Noninvasive prenatal testing (NIPT) is a screening test for fetal chromosome disorders. Recent studies show an incidental detection of maternal malignancies in NIPT diagnostics, where the simultaneous...

Sex selection and non-invasive prenatal testing: a review of current practices, evidence, and ethical issues.

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Medical and Biotech [MESH] Definitions

A chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 13. Clinical manifestations include CONGENITAL HEART DEFECTS (e.g., PATENT DUCTUS ARTERIOSUS), facial malformations (e.g., CLEFT LIP; CLEFT PALATE; COLOBOMA; MICROPHTHALMIA); HYPOTONIA, digit malformations (e.g., POLYDACTYLY or SYNDACTYLY), and SEIZURES and severe INTELLECTUAL DISABILITY associated with NERVOUS SYSTEM MALFORMATIONS.

A chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 18. Clinical manifestations include INTRAUTERINE GROWTH RETARDATION; CLEFT PALATE; CONGENITAL HEART DEFECTS; MICROCEPHALY; MICROGNATHIA and clenched fists with overlapping fingers. Most affected fetuses do not survive to birth. Those who survive through their first year often have severe INTELLECTUAL DISABILITY.

The 46,XX gonadal dysgenesis may be sporadic or familial. Familial XX gonadal dysgenesis is transmitted as an autosomal recessive trait and its locus was mapped to chromosome 2. Mutation in the gene for the FSH receptor (RECEPTORS, FSH) was detected. Sporadic XX gonadal dysgenesis is heterogeneous and has been associated with trisomy-13 and trisomy-18. These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration. The syndrome is sometimes called "pure gonadal dysgenesis," but this designation may also refer to gonadal dysgenesis with a 46,XY karyotype (GONADAL DYSGENESIS, 46,XY).

A 4-kDa protein, 39-43 amino acids long, expressed by a gene located on chromosome 21. It is the major protein subunit of the vascular and plaque amyloid filaments in individuals with Alzheimer's disease and in aged individuals with trisomy 21 (DOWN SYNDROME). The protein is found predominantly in the nervous system, but there have been reports of its presence in non-neural tissue.

The possession of a third chromosome of any one type in an otherwise diploid cell.

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